Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

What it is

From: Orphanet

A rare ophtalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormality of eye movement · Very frequent (99-80%)

An abnormality in voluntary or involuntary eye movements or their control.

Absent eyelashes · Very frequent (99-80%)

Lack of eyelashes.

Absent lacrimal punctum · Very frequent (99-80%)

No identifiable superior and/or inferior lacrimal punctum.

Anteverted nares · Very frequent (99-80%)

Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).

Biparietal narrowing · Very frequent (99-80%)

A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).

Clinodactyly of the 5th finger · Very frequent (99-80%)

Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).

Highly arched eyebrow · Very frequent (99-80%)

Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.

Hypoplasia of the maxilla · Very frequent (99-80%)

Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.

Long philtrum · Very frequent (99-80%)

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Ptosis · Very frequent (99-80%)

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Telecanthus · Very frequent (99-80%)

Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.

Thick eyebrow · Very frequent (99-80%)

Increased density/number and/or increased diameter of eyebrow hairs.

Abnormal pinna morphology · Frequent (79-30%)

An abnormality of the pinna, which is also referred to as the auricle or external ear.

Microretrognathia · Frequent (79-30%)

A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.

Other findings in the same source

From: Orphanet

Additional reported features include Posteriorly rotated ears (Frequent (79-30%)); Sloping forehead (Frequent (79-30%)); Thick vermilion border (Frequent (79-30%)); Tricuspid regurgitation (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal recessive

Frequency and the population described

From: Orphanet

Reported case(s): 3.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome is Ophthalmology, with a ophthalmologist as the relevant type of clinician. Ophthalmologist; paediatric services for children as appropriate.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which part of the eye or visual pathway is affected?
• What change in vision requires immediate contact with the eye service?
• What are the aims and alternatives of any proposed eye treatment?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.